Canonical Allele Identifier: CA314557492

Gene: SRSF6

Linked Data

• dbSNP Id: rs1028799421
• MyVariant Identifiers: chr20:g.42089364_42089375del (hg19) ; chr20:g.43460724_43460735del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460731_43460742del , CM000682.2:g.43460731_43460742del	GRCh38
NC_000020.10:g.42089371_42089382del , CM000682.1:g.42089371_42089382del	GRCh37
NC_000020.9:g.41522785_41522796del	NCBI36
NG_029906.1:g.7868_7879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.703_714del MANE Select	ENSP00000244020.3:p.Arg235_Ser238del
ENST00000657241.1:c.654+133_654+144del
ENST00000662078.1:c.674+133_674+144del	ENSP00000499666.1:n.674+133_674+144del
ENST00000668808.1:c.703_714del	ENSP00000499517.1:p.Arg235_Ser238del
ENST00000670741.1:c.674+133_674+144del	ENSP00000499492.1:n.674+133_674+144del
ENST00000671022.1:n.793_804del
ENST00000244020.4:c.703_714del	ENSP00000244020.3:p.Arg235_Ser238del
ENST00000483871.6:c.*563_*574del	ENSP00000433544.1:n.*563_*574del
NM_006275.5:c.703_714del	NP_006266.2:p.Arg235_Ser238del
NR_034009.1:n.1141_1152del
XR_936608.1:n.1462_1473del
XR_936608.2:n.1462_1473del
NM_006275.6:c.703_714del MANE Select	NP_006266.2:p.Arg235_Ser238del
NR_034009.2:n.1109_1120del